Assay Details
Target Gene Details
Entrez Gene ID: | 1312 |
Gene Name: | catechol-O-methyltransferase |
Gene Aliases: |
HEL-S-98n |
Location: |
Chr.22:19941740-19969975 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COMT | NM_000754.3 | NP_000745.1 | ||
NM_001135161.1 | NP_001128633.1 | |||
NM_001135162.1 | NP_001128634.1 | |||
XM_017028594.1 | XP_016884083.1 | |||
XM_017028595.1 | XP_016884084.1 | |||
AK130031.1 | ||||
AK290440.1 | ||||
BC000419.2 | AAH00419.2 | |||
BC005867.2 | AAH05867.1 | |||
BC100018.1 | AAI00019.1 | |||
BE386545.1 | ||||
BE728779.1 | ||||
BX461394.2 | ||||
FJ224345.1 | ||||
M58525.1 | AAA68929.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3584493 | Chr.22:19954404 - 19991035 on Build GRCh38 | Gain | MIR4761 COMT ARVCF |
nsv953026 | Chr.22:19950978 - 20070877 on Build GRCh38 | Deletion | MIR4761 TANGO2 MIR185 COMT ARVCF |
esv3893434 | Chr.22:19470889 - 20343372 on Build GRCh38 | Gain | LOC101927859 C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A CDC45 RANBP1 TXNRD2 COMT UFD1L LOC440792 MIR1286 LINC00896 MIR4761 LINC00895 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L CLDN5 GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF |
nsv828939 | Chr.22:19696032 - 20324465 on Build GRCh38 | Loss | C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A RANBP1 TXNRD2 COMT LOC440792 MIR1286 LINC00896 MIR4761 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF |
nsv828938 | Chr.22:19691069 - 20324465 on Build GRCh38 | Gain | C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A RANBP1 TXNRD2 COMT LOC440792 MIR1286 LINC00896 MIR4761 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF |
esv3647280 | Chr.22:19901541 - 19962814 on Build GRCh38 | Gain | TXNRD2 COMT |
nsv469641 | Chr.22:19891662 - 20067735 on Build GRCh38 | Loss | MIR4761 TANGO2 MIR185 TXNRD2 COMT ARVCF |
dgv72n68 | Chr.22:19891663 - 20082447 on Build GRCh38 | Loss | MIR4761 DGCR8 TANGO2 MIR185 TXNRD2 COMT ARVCF |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | PI4KAP1 MRPL40 C22orf29 USP18 DGCR2 C22orf39 SEPT5-GP1BB RIMBP3 DGCR11 TSSK2 DGCR6 LOC100996401 CDC45 DGCR14 FAM230A PRODH SLC25A1 TXNRD2 GSC2 COMT UFD1L CLTCL1 MIR4761 LINC00895 GGT3P HIRA LOC100996415 SEPT5 LINC01311 TBX1 DGCR9 CLDN5 GNB1L LOC102725072 LOC729461 DGCR5 GP1BB LOC100996432 DGCR10 TMEM191B LOC642643 |
dgv7983n54 | Chr.22:19762002 - 20321870 on Build GRCh38 | Gain | LINC00896 C22orf29 MIR4761 TANGO2 CCDC188 RTN4R LOC284865 MIR3618 MIR185 MIR6816 TBX1 DGCR6L GNB1L TRMT2A MIR1306 ZDHHC8 DGCR8 RANBP1 TXNRD2 COMT LOC440792 ARVCF MIR1286 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |